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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-123291354-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123291354&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123291354,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000462833.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3086T>A",
"hgvs_p": "p.Met1029Lys",
"transcript": "NM_183357.3",
"protein_id": "NP_899200.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3631,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": "ENST00000462833.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3086T>A",
"hgvs_p": "p.Met1029Lys",
"transcript": "ENST00000462833.6",
"protein_id": "ENSP00000419361.1",
"transcript_support_level": 1,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3631,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": "NM_183357.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3248T>A",
"hgvs_p": "p.Met1083Lys",
"transcript": "ENST00000850916.1",
"protein_id": "ENSP00000520999.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3248,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3631,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3161T>A",
"hgvs_p": "p.Met1054Lys",
"transcript": "NM_001378259.1",
"protein_id": "NP_001365188.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3161,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3706,
"cdna_end": null,
"cdna_length": 6718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3161T>A",
"hgvs_p": "p.Met1054Lys",
"transcript": "ENST00000699718.1",
"protein_id": "ENSP00000514543.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3161,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3161,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2060T>A",
"hgvs_p": "p.Met687Lys",
"transcript": "ENST00000491190.5",
"protein_id": "ENSP00000418537.1",
"transcript_support_level": 2,
"aa_start": 687,
"aa_end": null,
"aa_length": 919,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2051T>A",
"hgvs_p": "p.Met684Lys",
"transcript": "ENST00000470367.2",
"protein_id": "ENSP00000514541.1",
"transcript_support_level": 4,
"aa_start": 684,
"aa_end": null,
"aa_length": 916,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2036T>A",
"hgvs_p": "p.Met679Lys",
"transcript": "NM_001199642.1",
"protein_id": "NP_001186571.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 911,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 5123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2036T>A",
"hgvs_p": "p.Met679Lys",
"transcript": "ENST00000309879.9",
"protein_id": "ENSP00000308685.5",
"transcript_support_level": 2,
"aa_start": 679,
"aa_end": null,
"aa_length": 911,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1763T>A",
"hgvs_p": "p.Met588Lys",
"transcript": "ENST00000466617.6",
"protein_id": "ENSP00000420082.2",
"transcript_support_level": 5,
"aa_start": 588,
"aa_end": null,
"aa_length": 820,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1763T>A",
"hgvs_p": "p.Met588Lys",
"transcript": "ENST00000483566.2",
"protein_id": "ENSP00000420252.2",
"transcript_support_level": 4,
"aa_start": 588,
"aa_end": null,
"aa_length": 820,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1763T>A",
"hgvs_p": "p.Met588Lys",
"transcript": "ENST00000699714.1",
"protein_id": "ENSP00000514539.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 820,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 5110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1763T>A",
"hgvs_p": "p.Met588Lys",
"transcript": "ENST00000699715.1",
"protein_id": "ENSP00000514540.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 820,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1763T>A",
"hgvs_p": "p.Met588Lys",
"transcript": "ENST00000699716.1",
"protein_id": "ENSP00000514542.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 820,
"cds_start": 1763,
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"cds_length": 2463,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2162T>A",
"hgvs_p": "p.Met721Lys",
"transcript": "XM_011512359.3",
"protein_id": "XP_011510661.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 953,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3045,
"cdna_end": null,
"cdna_length": 6057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2111T>A",
"hgvs_p": "p.Met704Lys",
"transcript": "XM_005247078.1",
"protein_id": "XP_005247135.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 936,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2087T>A",
"hgvs_p": "p.Met696Lys",
"transcript": "XM_047447359.1",
"protein_id": "XP_047303315.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 928,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2968,
"cdna_end": null,
"cdna_length": 5980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2072T>A",
"hgvs_p": "p.Met691Lys",
"transcript": "XM_011512360.3",
"protein_id": "XP_011510662.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 923,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2063T>A",
"hgvs_p": "p.Met688Lys",
"transcript": "XM_017005638.1",
"protein_id": "XP_016861127.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 920,
"cds_start": 2063,
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"cdna_start": 2078,
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"cdna_length": 5090,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2063T>A",
"hgvs_p": "p.Met688Lys",
"transcript": "XM_017005639.1",
"protein_id": "XP_016861128.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 920,
"cds_start": 2063,
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"cdna_start": 2078,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2060T>A",
"hgvs_p": "p.Met687Lys",
"transcript": "XM_006713483.2",
"protein_id": "XP_006713546.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 919,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 5195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1997T>A",
"hgvs_p": "p.Met666Lys",
"transcript": "XM_047447360.1",
"protein_id": "XP_047303316.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 898,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"verdict": "Likely_pathogenic",
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"clinvar_disease": " autosomal dominant,Dyskinesia with orofacial involvement",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Dyskinesia with orofacial involvement, autosomal dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}